Amanote Research
Register
Sign In
Phenotypic Variation of a Thr704Met Mutation in Skeletal Sodium Channel Gene in a Family With Paralysis Periodica Paramyotonica
Journal of Neurology, Neurosurgery and Psychiatry
- United Kingdom
doi 10.1136/jnnp.70.5.618
Full Text
Open PDF
Abstract
Available in
full text
Categories
Psychiatry
Mental Health
Neurology
Surgery
Date
May 1, 2001
Authors
J Kim
Publisher
BMJ
Related search
Marked Intrafamilial Phenotypic Variation in a Family With SOD1 C111Y Mutation
Amyotrophic Lateral Sclerosis
A Family With Vocal Cord Paralysis Associated With GDAP1 Mutation in Giresun, Turkey
Turk Noroloji Dergisi
Neurology
A Family With Liddle's Syndrome Caused by a New C.1721 Deletion Mutation in the Epithelial Sodium Channel Β‑subunit
Experimental and Therapeutic Medicine
Medicine
Cancer Research
Immunology
Microbiology
Phenotypic Heterogeneity in British Patients With a Founder Mutation in the FHL1 Gene
European Journal of Human Genetics
Genetics
Striking Phenotypic Variation in a Family With the P506S UBQLN2 Mutation Including Amyotrophic Lateral Sclerosis, Spastic Paraplegia and Frontotemporal Dementia
Neurobiology of Aging
Aging
Gerontology
Developmental Biology
Geriatrics
Neuroscience
Neurology
Phenotypic Heterogeneity in a Family With FAP Due to a TTR Leu58Arg Mutation: A Clinicopathologic Study
Journal of the Neurological Sciences
Neurology
A Mutation in the Pore of the Sodium Channel Alters Gating
Biophysical Journal
Biophysics
Phenotypic Difference of CLCN1 Gene Variant (A313T) in a Korean Family With Myotonia Congenita
Journal of the Korean Neurological Association
Novel Mutation in GJB4 Gene (Connexin 30.3) in a Family With Erythrokeratodermia Variabilis
Acta Dermato-Venereologica
Dermatology
Medicine
